Canonical Allele Identifier: CA362695227
Gene: DSP HGNC NCBI
ClinVar RCV:
RCV001884442
ClinVar Variation:
1388205
dbSNP:
139969658
gnomAD v2:
6:7585971 C / G
gnomAD v4:
chr6-7585738-C-G
Joint Max Group AF 0.0000074 (EAS)
Exomes Max Group AF 0.00000836 (EAS)
MyVariant.info:
GRCh38 chr6:g.7585738C>G
GRCh37 chr6:g.7585971C>G
Revel Score:
ENST00000379802 (MANE Select) 0.329
ENST00000418664 0.329
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585738C>G , CM000668.2:g.7585738C>G GRCh38
NC_000006.11:g.7585971C>G , CM000668.1:g.7585971C>G GRCh37
NC_000006.10:g.7530970C>G NCBI36
NG_008803.1:g.49102C>G , LRG_423:g.49102C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.7147C>G ENSP00000518230.1:p.Arg2383Gly
ENST00000379802.8:c.8476C>G MANE Select ENSP00000369129.3:p.Arg2826Gly
ENST00000379802.7:c.8476C>G ENSP00000369129.3:p.Arg2826Gly
ENST00000418664.2:c.6679C>G ENSP00000396591.2:p.Arg2227Gly
NM_001008844.1:c.6679C>G NP_001008844.1:p.Arg2227Gly
NM_004415.2:c.8476C>G , LRG_423t1:c.8476C>G NP_004406.2:p.Arg2826Gly
XM_011514323.1:c.7147C>G XP_011512625.1:p.Arg2383Gly
NM_001008844.2:c.6679C>G NP_001008844.1:p.Arg2227Gly
NM_001319034.1:c.7147C>G NP_001305963.1:p.Arg2383Gly
NM_004415.3:c.8476C>G NP_004406.2:p.Arg2826Gly
NM_004415.4:c.8476C>G MANE Select NP_004406.2:p.Arg2826Gly
NM_001008844.3:c.6679C>G NP_001008844.1:p.Arg2227Gly
NM_001319034.2:c.7147C>G NP_001305963.1:p.Arg2383Gly
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